John A. Moran Eye Center physician-researcher Paul S. Bernstein, MD, PhD, and his patients at the University of Utah played a key role in the recent discovery of the first genetic cause for a rare eye disease.... NEWS MEDICAL · 6 days
Genetic discovery linked to rare eye disease  SCIENCE DAILY · 5 days
Paul S. Bernstein, M.D., Ph.D., spent more than a decade working with families at the John A. Moran Eye Center at the University of Utah on the hunt for the first gene known to... more
LMRI scientists discover cause of debilitating eye disease  NEWS MEDICAL · 6 days
Scientists at the Lowy Medical Research Institute have discovered one cause of a progressive, debilitating eye disease called macular telangiectasia type 2 (MacTel). more
Gene coding error likely responsible for rare form of inherited 'short telomere' disease  NEWS MEDICAL · 6 days
By combing through the entire genetic sequences of a person with a lung scarring disease and 13 of the person’s relatives, Johns... more
New biomarker for rare autoimmune disease  SCIENCE DAILY · 3 weeks
Researchers have identified a unique biological marker that can be used to identify the presence of the rare autoimmune disease myasthenia gravis, predict the course of the disease and identify new, personalized treatments. more
New insights into protein transport could help define strategies for treating eye disease  NEWS MEDICAL · 4 weeks
Many forms of vision loss stem from a common source: impaired communication between the eye and the brain. And at the root... more
Retina-on-a-chip provides powerful tool for studying eye disease  nanowerk · 3 weeks
This cutting-edge tool may provide a useful alternative to existing models for studying eye disease and allow scientists to test the effects of drugs on the retina more efficiently. more
Eye-tracking tests may help identify people at high risk of developing Alzheimer's disease  NEWS MEDICAL · 4 weeks
New research has found that it may be possible to predict if people with mild memory and thinking impairments will go onto... more
Evidence suggests rare deer lived 50 years beyond 'extinction'  PHYS.ORG · 2 weeks
A rare deer species that lived in central Thailand might have come back from the dead—without the help from sci-fi-like genetic engineering. more
Children's Tumor Foundation harnesses interest in rare disease research through NF Innovation Week  NEWS MEDICAL · 2 days
Neurofibromatosis, a genetic disorder that causes tumors to grow on nerves throughout the body and which affects 1 in 3,000 people -... more
Researchers discover unique biological marker for rare autoimmune disease  NEWS MEDICAL · 3 weeks
University of Alberta researchers have identified a unique biological marker that can be used to identify the presence of the rare autoimmune disease myasthenia gravis, predict the course of the... more
The rare molecule weighing in on the birth of planets  PHYS.ORG · 5 days
Astronomers using one of the most advanced radio telescopes have discovered a rare molecule in the dust and gas disc around a young star—and it may provide an... more
The rare molecule weighing in on the birth of planets  SCIENCE DAILY · 4 days
Astronomers using one of the most advanced radio telescopes have discovered a rare molecule in the dust and gas disc around a young star -- and it may... more
Cause of rare, fatal disorder in young children pinpointed  SCIENCE DAILY · 4 hours
Scientists appear to have solved a decades-long mystery regarding the precise biochemical pathway leading to a fatal genetic disorder in children that results in seizures, developmental regression and death, usually... more
New planet discovered in orbit of young Milky Way star  PHYS.ORG · 4 weeks
A second planet has been discovered circling Beta Pictoris, a fledgling star in our own galaxy offering astronomers a rare glimpse of a planetary system in the making,... more
Protein-transport discovery may help define new strategies for treating eye disease  SCIENCE DAILY · 4 weeks
Many forms of vision loss stem from a common source: impaired communication between the eye and the brain. And at the root of that communication are... more
Genetic engineering could open possibilities for patients with Parkinson’s disease  NEWS MEDICAL · 7 days
People with Parkinson’s disease experience loss of dopamine-producing brain cells, leading to tremors, rigidity, bradykinesia, and postural instability, the primary symptoms of the disease. more
Eye-centring common in 'selfie' photos  NEWS MEDICAL · 6 days
Why bother whether one eye is nearer the center or not in an Instagram selfie? The question seems particularly unimportant. However, earlier research showed that in historic portraits, one eye is always nearer the center of the picture. more
FDA approves first drug to treat patients with rare lung condition  NEWS MEDICAL · 2 weeks
The U.S. Food and Drug Administration today approved Ofev (nintedanib) capsules to slow the rate of decline in pulmonary function in adults with interstitial lung disease... more
Cancer research: The genetic context is crucial  SCIENCE DAILY · 6 days
A team has uncovered a mechanism behind the variability in the clinical course of Ewing sarcoma. The interaction between the acquired driver mutation and the germline genetic context in which it occurs determines the... more
Gene editing enables researchers to correct mutation in muscle stem cells in DMD model  SCIENCE DAILY · 55 minutes
Duchenne muscular dystrophy (DMD) is a rare but devastating genetic disorder that causes muscle loss and physical impairments. Researchers have... more
Insomnia tied to higher risk of heart disease and stroke  SCIENCE DAILY · 4 weeks
Data from more than a million people found that genetic liability to insomnia may increase the risk of coronary artery disease, heart failure and stroke. Among types of... more
Breakthroughs seen in artificial eye and muscle technology  PHYS.ORG · 4 weeks
Inspired by the human eye, researchers at the Harvard John A. Paulson School of Engineering and Applied Sciences (SEAS) have developed an adaptive metalens that is essentially a flat, electronically controlled artificial... more
New artificial compound eye could improve 3D object tracking  SCIENCE DAILY · 4 weeks
A newly created biologically inspired compound eye is helping scientists understand how insects use their compound eyes to sense an object and its trajectory with such speed. The compound eye... more
"Australian" genetic mutation provides clues to Alzheimer’s mechanism  NEWS MEDICAL · 3 weeks
In an astonishing new breakthrough in Alzheimer’s research, the molecular basis of early-onset Alzheimer’s disease (AD) and age-linked AD has been identified by looking at one type of genetic mutation. more
New artificial compound eye could improve 3-D object tracking  PHYS.ORG · 4 weeks
If you've ever tried to swat a fly, you know that insects react to movement extremely quickly. A newly created biologically inspired compound eye is helping scientists understand how insects... more
The Rare Molecule Weighing in on the Birth of Planets  ASTRO WATCH · 9 hours
Astronomers using one of the most advanced radio telescopes have discovered a rare molecule in the... more
1st Genetic Markers Tied to Being Left-Handed Found  LIVE SCIENCE · 2 weeks
Scientists have discovered the first genetic markers tied to being left-handed. more
Miniaturizing medical imaging, sensing technology  PHYS.ORG · 4 hours
Scientists in Christine Hendon's and Michal Lipson's research groups at Columbia University, New York, have used a microchip to map the back of the eye for disease diagnosis. more
Promising treatment for an incurable, deadly kidney disease  SCIENCE DAILY · 5 days
A potential treatment for polycystic kidney disease -- a genetic disorder that causes the kidneys to swell with multiple cysts and can eventually lead to organ failure -- has shown promising results... more
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